Infant with multiple congenital anomalies and deletion (9)(q34.3)
- 7 June 1994
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 51 (2) , 140-142
- https://doi.org/10.1002/ajmg.1320510211
Abstract
We report on a male infant with developmental delay, growth failure, hypotonia, dolichocephaly, hypoplastic midface, epicanthal folds, down‐slanting palpebral fissures, foveal hypoplasia, tracheomalacia, pectus excavatum, supraventricular tachycardia, gut malrotation, hypospadias, talipes equinovarus, short third metatarsals, capillary hemangiomata, and a de novo terminal deletion at 9q34.3.Keywords
This publication has 8 references indexed in Scilit:
- Patients with deletions of 9q22q34 do not define a syndrome: three case reports and a literature reviewClinical Genetics, 2008
- Schizophrenia and mental retardation in an adult male with a de novo interstitial deletion 9(q32q34.1).Journal of Medical Genetics, 1991
- Newborn infant with del(9)(pter→q32:) and multiple congenital anomalies including arrhinencephaly, cardiac malformations, and rudimentary earsAmerican Journal of Medical Genetics, 1987
- Gross congenital abnormality associated with an apparently balanced chromosomal translocation t(9;17)(q34;q11)Journal of Medical Genetics, 1982
- De novo interstitial deletion in the long arm of chromosome 9: a new chromosome syndrome.Journal of Medical Genetics, 1982
- An interstitial deletion of chromosome 9 in a girl with multiple congenital anomalies.Journal of Medical Genetics, 1977
- A Chromosomal Break and Partial Delection of a Number 9 ChromosomeHuman Heredity, 1973
- Chromosome survey of a hospital for the mentally subnormal Part 2: Autosome abnormalitiesClinical Genetics, 1972